Canonical Allele Identifier: CA517471437

Gene: ATRX

Linked Data

• dbSNP Id: rs2148436746
• MyVariant Identifiers: chrX:g.76907670A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652180A>T , CM000685.2:g.77652180A>T	GRCh38
NC_000023.10:g.76907670A>T , CM000685.1:g.76907670A>T	GRCh37
NC_000023.9:g.76794326A>T	NCBI36
NG_008838.2:g.139042T>A
NG_008838.3:g.139090T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4491T>A MANE Select	ENSP00000362441.4:p.Leu1497=
ENST00000373344.9:c.4491T>A	ENSP00000362441.4:p.Leu1497=
ENST00000395603.7:c.4377T>A	ENSP00000378967.3:p.Leu1459=
ENST00000480283.5:c.*4119T>A	ENSP00000480196.1:n.*4119T>A
ENST00000623242.3:c.97T>A
NM_000489.4:c.4491T>A	NP_000480.3:p.Leu1497=
NM_138270.3:c.4377T>A	NP_612114.2:p.Leu1459=
XM_005262153.3:c.4488T>A	XP_005262210.2:p.Leu1496=
XM_005262154.3:c.4404T>A	XP_005262211.2:p.Leu1468=
XM_005262155.3:c.4374T>A	XP_005262212.2:p.Leu1458=
XM_005262156.3:c.4326T>A	XP_005262213.2:p.Leu1442=
XM_005262157.3:c.4287T>A	XP_005262214.2:p.Leu1429=
XM_006724666.2:c.4374T>A	XP_006724729.1:p.Leu1458=
XM_006724667.2:c.4212T>A	XP_006724730.1:p.Leu1404=
XM_006724668.2:c.4491T>A	XP_006724731.1:p.Leu1497=
XR_938400.1:n.4759T>A
NM_000489.5:c.4491T>A	NP_000480.3:p.Leu1497=
XM_005262153.5:c.4488T>A	XP_005262210.2:p.Leu1496=
XM_005262154.5:c.4404T>A	XP_005262211.2:p.Leu1468=
XM_005262155.4:c.4374T>A	XP_005262212.2:p.Leu1458=
XM_005262156.4:c.4326T>A	XP_005262213.2:p.Leu1442=
XM_005262157.5:c.4287T>A	XP_005262214.2:p.Leu1429=
XM_006724666.4:c.4374T>A	XP_006724729.1:p.Leu1458=
XM_006724667.3:c.4212T>A	XP_006724730.1:p.Leu1404=
XM_006724668.3:c.4491T>A	XP_006724731.1:p.Leu1497=
XM_017029601.2:c.4401T>A	XP_016885090.1:p.Leu1467=
XM_017029602.1:c.4371T>A	XP_016885091.1:p.Leu1457=
XM_017029603.1:c.4323T>A	XP_016885092.1:p.Leu1441=
XM_017029604.2:c.4290T>A	XP_016885093.1:p.Leu1430=
XM_017029605.1:c.4287T>A	XP_016885094.1:p.Leu1429=
XM_017029606.2:c.4260T>A	XP_016885095.1:p.Leu1420=
XM_017029607.2:c.4257T>A	XP_016885096.1:p.Leu1419=
XM_017029608.2:c.4209T>A	XP_016885097.1:p.Leu1403=
XM_017029609.1:c.4173T>A	XP_016885098.1:p.Leu1391=
XM_017029610.1:c.4170T>A	XP_016885099.1:p.Leu1390=
XM_017029611.1:c.4125T>A	XP_016885100.1:p.Leu1375=
XR_001755700.2:n.4716T>A
NM_138270.4:c.4377T>A	NP_612114.2:p.Leu1459=
NM_000489.6:c.4491T>A MANE Select	NP_000480.3:p.Leu1497=
NM_138270.5:c.4377T>A	NP_612114.2:p.Leu1459=